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Items: 19

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VWF
(R2535*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
VWF
(R1659*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
VWF
(R1597W)
Single nucleotide variant
(missense variant)
Hereditary von Willebrand disease
+4 more
GPathogenic/Likely pathogenic
VWF
(Y1584C)
Single nucleotide variant
(missense variant)
VWF-related condition
+7 more
GConflicting classifications of pathogenicity; risk factor
VWF
(S1506L)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
+2 more
GPathogenic/Likely pathogenic
VWF
(I1425F)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
+3 more
GLikely pathogenic
VWF
(R1379C)
Single nucleotide variant
(missense variant)
Hereditary von Willebrand disease
+4 more
GPathogenic/Likely pathogenic
VWF
(R1341Q)
Single nucleotide variant
(missense variant)
VWF-related condition
+1 more
GPathogenic
VWF
(V1316M)
Single nucleotide variant
(missense variant)
not provided
+6 more
GPathogenic
VWF
(R1308L)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
GLikely pathogenic
VWF
(R1306W)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
VWF
(V1279I)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
VWF
(P1266Q)
Single nucleotide variant
(missense variant)
VWF-related condition
+5 more
GConflicting classifications of pathogenicity
VWF
(P1266L)
Single nucleotide variant
(missense variant)
VWF-related condition
+6 more
GConflicting classifications of pathogenicity
VWF
(R1205H)
Single nucleotide variant
(missense variant)
VWF-related condition
+3 more
GPathogenic
VWF
(R854Q)
Single nucleotide variant
(missense variant)
VWF-related condition
+8 more
GPathogenic/Likely pathogenic
VWF
(R816W)
Single nucleotide variant
(missense variant)
Hereditary von Willebrand disease
+1 more
GPathogenic/Likely pathogenic
VWF
(P812fs)
Deletion
(frameshift variant)
not provided
+5 more
GPathogenic
VWF
(T791M)
Single nucleotide variant
(missense variant)
von Willebrand disease type 2
+1 more
GPathogenic/Likely pathogenic
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